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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Noonan syndrome 4
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Accession:DOID:0060582 term browser browse the term
Definition:A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. (DO)
Synonyms:exact_synonym: NS4
 primary_id: MESH:C548082
 alt_id: OMIM:610733;   RDO:0004663
For additional species annotation, visit the Alliance of Genome Resources.

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Noonan syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO DNA:missense mutations:exon:multiple
ClinVar Annotator: match by OMIM:610733
ClinVar Annotator: match by term: Noonan syndrome 4
PMID:14551916 PMID:16267129 PMID:17143282 PMID:17143285 PMID:17586837 More... RGD:11063178, RGD:11063543, RGD:11063026 NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      congenital heart disease 1080
        Noonan syndrome 55
          Noonan syndrome 4 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                Noonan syndrome 4 1
paths to the root